(Q72550838)

English

Gene mapping and serendipity. The locus for torticollis, keloids, cryptorchidism and renal dysplasia (31430, Mckusick) is at Xq28, distal to the G6PD locus

scientific article published on 01 January 1982

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Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6132873%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Gene mapping and serendipity. The locus for torticollis, keloids, cryptorchidism and renal dysplasia (31430, Mckusick) is at Xq28, distal to the G6PD locus (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6132873%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Renal dysplasia

1 reference

based on heuristic

inferred from title

torticollis-keloids-cryptorchidism-renal dysplasia syndrome

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Orsetta Zuffardi

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6132873%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

author name string

M Fraccaro

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6132873%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

publication date

1 January 1982

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6132873%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6132873%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

62

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6132873%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6132873%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

280-281

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6132873%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

https://scigraph.springernature.com/pub.10.1007/bf00333537

0 references

Chromosomal abnormalities in mendelian disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/6132873

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation

1 reference

https://pubmed.ncbi.nlm.nih.gov/6132873

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two human X-autosome translocations identified by autoradiography and fluorescence

1 reference

https://pubmed.ncbi.nlm.nih.gov/6132873

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

H-Y antigen expression in patients with X-autosomal translocations and gonadal dysgenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/6132873

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X;autosome translocation

1 reference

https://pubmed.ncbi.nlm.nih.gov/6132873

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.

1 reference

https://pubmed.ncbi.nlm.nih.gov/6132873

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation

1 reference

https://pubmed.ncbi.nlm.nih.gov/6132873

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bilateral retinoblastoma with a 13qXp translocation

1 reference

https://pubmed.ncbi.nlm.nih.gov/6132873

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new probably X-linked inherited syndrome: congenital muscular torticollis, multiple keloids cryptorchidism and renal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/6132873

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Possible inactivation of part of chromosome 13 due to 13qXp translocation associated with retinoblastoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/6132873

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mental retardation in association with a balanced X-autosome translocation and random inactivation of the X chromosomes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/6132873

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00333537

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6132873%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6132873%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

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